ATP6V1C2 explained

V-type proton ATPase subunit C 2 is an enzyme that in humans is encoded by the ATP6V1C2 gene.^{[1] [2]}

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation.

V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain C subunit isoforms.

Notes and References

1. Smith AN, Borthwick KJ, Karet FE . Molecular cloning and characterization of novel tissue-specific isoforms of the human vacuolar H(+)-ATPase C, G and d subunits, and their evaluation in autosomal recessive distal renal tubular acidosis . Gene . 297 . 1–2 . 169–77 . Oct 2002 . 12384298 . 10.1016/S0378-1119(02)00884-3 .
2. Web site: Entrez Gene: ATP6V1C2 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2.